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74591 Abca12

74591

Abca12

ATP-binding cassette, sub-family A (ABC1), member 12

protein-coding

Mus musculus

基因描述

Type Description
Definition ATP-binding cassette, sub-family A (ABC1), member 12

研究结论

Date Results Publications
2017-07-29 12:53:00 these findings suggest an essential role for ABCA12 in transferring not only lipids, which are required for the formation of multilamellar structures in the stratum corneum, but also proteolytic enzymes that are required for normal desquamation. 27551807
2014-11-08 13:42:00 Data indicate that ABC transporter A family member 12 knockout (Abca12(-/-)) epidermis had 5-fold more beta-glucocerebrosidase (GCase) protein, and a 5-fold increase in GCase activity. 24293640
2014-04-19 11:52:00 ABCA12 mutations result in defective lipid transport via lamellar granules in the keratinocytes, leading to ichthyosis phenotypes from malformation of the stratum corneum lipid barrier. 23954554
2014-04-05 11:49:00 ABCA12 regulates the cellular cholesterol metabolism via an LXRbeta-dependent posttranscriptional mechanism. 23931754
2010-12-11 10:54:00 Results indicate that disrupted keratinocyte differentiation during the fetal development is involved in the pathomechanism of HI and, during maturation, Abca12(-/-) epidermal keratinocytes regain normal differentiation processes. 20489143

名称对应

Type IDs
Synonymous 4832428G11Rik, 4833417A11Rik
Gene
UniProtKB-ID: E9Q876_MOUSE
UniprotKB: E9Q876
UniParc: UPI00019867AC
EMBL: AC138589, AC107789
Ensembl: ENSMUSG00000050296
KO: mmu:74591
Nucleutide sequences
Ensembl_TRS: ENSMUST00000087268
Protein sequencees
Ensembl_PRO: ENSMUSP00000084523
RefSeq: NP_780419.2
Others
UniRef100: UniRef100_E9Q876
UniRef90: UniRef90_B2RY21
UniRef50: UniRef50_Q86UK0
UniGene: Mm.159251

全选

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研究热度

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